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Center for Computational Systems Medicine level2
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:KIF13A-UBE2K

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: KIF13A-UBE2K
FusionPDB ID: 42539
FusionGDB2.0 ID: 42539
HgeneTgene
Gene symbol

KIF13A

UBE2K

Gene ID

63971

3093

Gene namekinesin family member 13Aubiquitin conjugating enzyme E2 K
SynonymsRBKIN|bA500C11.2E2-25K|HIP2|HYPG|LIG|UBC1
Cytomap

6p22.3

4p14

Type of geneprotein-codingprotein-coding
Descriptionkinesin-like protein KIF13Ahomolog of mouse KIF13A mannose-6-phosphate receptor transporterkinesin-like protein RBKINubiquitin-conjugating enzyme E2 KE2 ubiquitin-conjugating enzyme KE2(25K)HIP-2huntingtin-interacting protein 2ubiquitin carrier proteinubiquitin conjugating enzyme E2Kubiquitin-conjugating enzyme E2(25K)ubiquitin-conjugating enzyme E2-25 KDAubiqu
Modification date2020031320200313
UniProtAcc

Q9H1H9

.
Ensembl transtripts involved in fusion geneENST idsENST00000259711, ENST00000378814, 
ENST00000378816, ENST00000378826, 
ENST00000378843, ENST00000502704, 
ENST00000503342, 
ENST00000438068, 
ENST00000445950, ENST00000503368, 
ENST00000295963, ENST00000261427, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score14 X 12 X 9=151217 X 12 X 8=1632
# samples 1718
** MAII scorelog2(17/1512*10)=-3.15285148808337
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/1632*10)=-3.18057224564182
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: KIF13A [Title/Abstract] AND UBE2K [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)KIF13A(17987285)-UBE2K(39776454), # samples:3
Anticipated loss of major functional domain due to fusion event.KIF13A-UBE2K seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
KIF13A-UBE2K seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
KIF13A-UBE2K seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
KIF13A-UBE2K seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneUBE2K

GO:0010800

positive regulation of peptidyl-threonine phosphorylation

24882218

TgeneUBE2K

GO:0010994

free ubiquitin chain polymerization

24882218

TgeneUBE2K

GO:0070936

protein K48-linked ubiquitination

20061386


check buttonFusion gene breakpoints across KIF13A (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across UBE2K (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SARCTCGA-DX-A8BU-01AKIF13Achr6

17987285

-UBE2Kchr4

39776454

+
ChimerDB4SARCTCGA-DX-AB2J-01AKIF13Achr6

17987285

-UBE2Kchr4

39776454

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000378814KIF13Achr617987285-ENST00000261427UBE2Kchr439776454+48081460449149
ENST00000259711KIF13Achr617987285-ENST00000261427UBE2Kchr439776454+4914252106555149
ENST00000378843KIF13Achr617987285-ENST00000261427UBE2Kchr439776454+482616418467149
ENST00000378826KIF13Achr617987285-ENST00000261427UBE2Kchr439776454+482716519468149
ENST00000378816KIF13Achr617987285-ENST00000261427UBE2Kchr439776454+4913251105554149
ENST00000502704KIF13Achr617987285-ENST00000261427UBE2Kchr439776454+4968306160609149

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000378814ENST00000261427KIF13Achr617987285-UBE2Kchr439776454+0.0065676390.9934323
ENST00000259711ENST00000261427KIF13Achr617987285-UBE2Kchr439776454+0.0060647610.9939353
ENST00000378843ENST00000261427KIF13Achr617987285-UBE2Kchr439776454+0.0064833750.9935167
ENST00000378826ENST00000261427KIF13Achr617987285-UBE2Kchr439776454+0.0064793340.9935207
ENST00000378816ENST00000261427KIF13Achr617987285-UBE2Kchr439776454+0.0060664290.9939336
ENST00000502704ENST00000261427KIF13Achr617987285-UBE2Kchr439776454+0.0059832620.99401677

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>42539_42539_1_KIF13A-UBE2K_KIF13A_chr6_17987285_ENST00000259711_UBE2K_chr4_39776454_ENST00000261427_length(amino acids)=149AA_BP=48
MSDTKVKVAVRVRPMNRRELELNTKCVVEMEGNQTVLHPPPSNTKQGERAAAMTLRTVLLSLQALLAAAEPDDPQDAVVANQYKQNPEMF

--------------------------------------------------------------

>42539_42539_2_KIF13A-UBE2K_KIF13A_chr6_17987285_ENST00000378814_UBE2K_chr4_39776454_ENST00000261427_length(amino acids)=149AA_BP=48
MSDTKVKVAVRVRPMNRRELELNTKCVVEMEGNQTVLHPPPSNTKQGERAAAMTLRTVLLSLQALLAAAEPDDPQDAVVANQYKQNPEMF

--------------------------------------------------------------

>42539_42539_3_KIF13A-UBE2K_KIF13A_chr6_17987285_ENST00000378816_UBE2K_chr4_39776454_ENST00000261427_length(amino acids)=149AA_BP=48
MSDTKVKVAVRVRPMNRRELELNTKCVVEMEGNQTVLHPPPSNTKQGERAAAMTLRTVLLSLQALLAAAEPDDPQDAVVANQYKQNPEMF

--------------------------------------------------------------

>42539_42539_4_KIF13A-UBE2K_KIF13A_chr6_17987285_ENST00000378826_UBE2K_chr4_39776454_ENST00000261427_length(amino acids)=149AA_BP=48
MSDTKVKVAVRVRPMNRRELELNTKCVVEMEGNQTVLHPPPSNTKQGERAAAMTLRTVLLSLQALLAAAEPDDPQDAVVANQYKQNPEMF

--------------------------------------------------------------

>42539_42539_5_KIF13A-UBE2K_KIF13A_chr6_17987285_ENST00000378843_UBE2K_chr4_39776454_ENST00000261427_length(amino acids)=149AA_BP=48
MSDTKVKVAVRVRPMNRRELELNTKCVVEMEGNQTVLHPPPSNTKQGERAAAMTLRTVLLSLQALLAAAEPDDPQDAVVANQYKQNPEMF

--------------------------------------------------------------

>42539_42539_6_KIF13A-UBE2K_KIF13A_chr6_17987285_ENST00000502704_UBE2K_chr4_39776454_ENST00000261427_length(amino acids)=149AA_BP=48
MSDTKVKVAVRVRPMNRRELELNTKCVVEMEGNQTVLHPPPSNTKQGERAAAMTLRTVLLSLQALLAAAEPDDPQDAVVANQYKQNPEMF

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:17987285/chr4:39776454)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KIF13A

Q9H1H9

.
FUNCTION: Plus end-directed microtubule-dependent motor protein involved in intracellular transport and regulating various processes such as mannose-6-phosphate receptor (M6PR) transport to the plasma membrane, endosomal sorting during melanosome biogenesis and cytokinesis. Mediates the transport of M6PR-containing vesicles from trans-Golgi network to the plasma membrane via direct interaction with the AP-1 complex. During melanosome maturation, required for delivering melanogenic enzymes from recycling endosomes to nascent melanosomes by creating peripheral recycling endosomal subdomains in melanocytes. Also required for the abcission step in cytokinesis: mediates translocation of ZFYVE26, and possibly TTC19, to the midbody during cytokinesis. {ECO:0000269|PubMed:19841138, ECO:0000269|PubMed:20208530}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneUBE2Kchr6:17987285chr4:39776454ENST0000026142737160_20099.66666666666667201.0DomainUBA
TgeneUBE2Kchr6:17987285chr4:39776454ENST0000044595036160_20099.66666666666667158.0DomainUBA
TgeneUBE2Kchr6:17987285chr4:39776454ENST0000050336815160_20048.666666666666664150.0DomainUBA

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKIF13Achr6:17987285chr4:39776454ENST00000259711-2391100_113848.6666666666666641806.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000259711-2391518_154748.6666666666666641806.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000259711-239359_43648.6666666666666641806.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000259711-239602_77548.6666666666666641806.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378814-2381100_113848.6666666666666641750.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378814-2381518_154748.6666666666666641750.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378814-238359_43648.6666666666666641750.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378814-238602_77548.6666666666666641750.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378826-2381100_113848.6666666666666641771.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378826-2381518_154748.6666666666666641771.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378826-238359_43648.6666666666666641771.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378826-238602_77548.6666666666666641771.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378843-2371100_113848.6666666666666641758.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378843-2371518_154748.6666666666666641758.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378843-237359_43648.6666666666666641758.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378843-237602_77548.6666666666666641758.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000502704-231100_113848.66666666666666471.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000502704-231518_154748.66666666666666471.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000502704-23359_43648.66666666666666471.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000502704-23602_77548.66666666666666471.0Coiled coilOntology_term=ECO:0000255
HgeneKIF13Achr6:17987285chr4:39776454ENST00000259711-239469_51948.6666666666666641806.0DomainNote=FHA
HgeneKIF13Achr6:17987285chr4:39776454ENST00000259711-2395_35248.6666666666666641806.0DomainKinesin motor
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378814-238469_51948.6666666666666641750.0DomainNote=FHA
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378814-2385_35248.6666666666666641750.0DomainKinesin motor
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378826-238469_51948.6666666666666641771.0DomainNote=FHA
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378826-2385_35248.6666666666666641771.0DomainKinesin motor
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378843-237469_51948.6666666666666641758.0DomainNote=FHA
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378843-2375_35248.6666666666666641758.0DomainKinesin motor
HgeneKIF13Achr6:17987285chr4:39776454ENST00000502704-23469_51948.66666666666666471.0DomainNote=FHA
HgeneKIF13Achr6:17987285chr4:39776454ENST00000502704-235_35248.66666666666666471.0DomainKinesin motor
HgeneKIF13Achr6:17987285chr4:39776454ENST00000259711-239102_10948.6666666666666641806.0Nucleotide bindingATP
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378814-238102_10948.6666666666666641750.0Nucleotide bindingATP
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378826-238102_10948.6666666666666641771.0Nucleotide bindingATP
HgeneKIF13Achr6:17987285chr4:39776454ENST00000378843-237102_10948.6666666666666641758.0Nucleotide bindingATP
HgeneKIF13Achr6:17987285chr4:39776454ENST00000502704-23102_10948.66666666666666471.0Nucleotide bindingATP
TgeneUBE2Kchr6:17987285chr4:39776454ENST00000261427374_15499.66666666666667201.0DomainUBC core
TgeneUBE2Kchr6:17987285chr4:39776454ENST00000445950364_15499.66666666666667158.0DomainUBC core
TgeneUBE2Kchr6:17987285chr4:39776454ENST00000503368154_15448.666666666666664150.0DomainUBC core


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>117_KIF13A_17987285_UBE2K_39776454_ranked_0.pdbKIF13A1798728517987285ENST00000261427UBE2Kchr439776454+
MSDTKVKVAVRVRPMNRRELELNTKCVVEMEGNQTVLHPPPSNTKQGERAAAMTLRTVLLSLQALLAAAEPDDPQDAVVANQYKQNPEMF
149


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
KIF13A_pLDDT.png
all structure
all structure
UBE2K_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
KIF13A
UBE2K


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to KIF13A-UBE2K


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to KIF13A-UBE2K


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource